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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:acrodermatitis enteropathica
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Accession:DOID:0050605 term browser browse the term
Definition:A metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and has_material_basis_in mutation in the SLC39A4 gene that encodes a zinc uptake protein and results in zinc deficiency. (DO)
Synonyms:exact_synonym: AEZ;   Acrodermatitis enteropathica zinc deficiency type
 narrow_synonym: hereditary acrodermatitis enteropathica
 broad_synonym: SLC39A4-related condition
 xref: GARD:5723;   MESH:C538178;   MIM:201100;   MONDO:0008713;   NCI:C128802


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acrodermatitis enteropathica term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130001397 ATAC-STARR-seq lymphoblastoid active region 28098 IAGP ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica
ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica | ClinVar Annotator: match by term: SLC39A4-related condition		 ClinVar PMID:19370757 PMID:25741868 PMID:28188634 PMID:28492532 PMID:30174688 More... NCBI chr 8:144,413,292...144,413,341 JBrowse link
G SLC39A4 solute carrier family 39 member 4 IAGP
EXP
ISS		 DNA:deletions, snp, missense mutations:multiple (human)
ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica
ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica | ClinVar Annotator: match by term: SLC39A4-related condition
ClinVar Annotator: match by term: Acrodermatitis enteropathica zinc deficiency type | ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica | ClinVar Annotator: match by term: SLC39A4-related condition
CTD Direct Evidence: marker/mechanism
OMIM:201100		 ClinVar
OMIM
CTD
MouseDO
RGD		 PMID:11035780 PMID:11254458 PMID:12032886 PMID:12068297 PMID:12787121 More... RGD:1599005 NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 147117
    Nutritional and Metabolic Diseases 26998
      disease of metabolism 26998
        inherited metabolic disorder 21864
          metal metabolism disorder 343
            acrodermatitis enteropathica 2
Path 2
Term Annotations click to browse term
  disease 147117
    Nutritional and Metabolic Diseases 26998
      disease of metabolism 26998
        acquired metabolic disease 7038
          nutrition disease 4466
            Malnutrition 401
              nutritional deficiency disease 381
                Zinc Deficiency 8
                  acrodermatitis enteropathica 2
paths to the root